ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3650G>A (p.Arg1217His)

gnomAD frequency: 0.00005  dbSNP: rs143271748
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001593610 SCV001816693 likely benign not provided 2020-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001593610 SCV002440650 benign not provided 2023-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039503 SCV002755430 uncertain significance not specified 2018-01-31 criteria provided, single submitter clinical testing The p.R1217H variant (also known as c.3650G>A), located in coding exon 2 of the KIAA2022 gene, results from a G to A substitution at nucleotide position 3650. The arginine at codon 1217 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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